| Ehlers-Danlos syndrome
Individuals with Dermatosparaxis Type Ehlers-Danlos
syndrome have severe skin fragility and substantial
bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture
is soft and doughy.Sagging, redundant skin is evident. The redundancy of facial skin
results in an appearance resembling cutis laxa. Large hernias(umbilical, inguinal) may
also be seen. The number of patients reported with this type of Ehlers-Danlos
syndrome is small.
Dermatosparaxis Type Ehlers-Danlos syndrome is caused by a deficiency of procollagenI N-terminal peptidase. It is
inherited in a autosomal recessive manner. A skin biopsy can diagnose this type of EDS.
The current Ehlers-Danlos syndrome type V (X-linked) has been described in a single family. It is a rare
variant and the molecular basis of which remains unknown.
The current Ehlers-Danlos syndrome type VIII is similar to
the Classical Type except that in addition it presents with periodontal friability.This is
a rare type of EDS. The existence of this syndrome as an autonomous entity is uncertain.
The Ehlers-Danlos syndrome type IX was previously
redefined as "Occipital Horn syndrome", an X-linked recessive condition allelic
to Menkes syndrome. This was previously removed from the Ehlers-Danlos syndrome
classification.
The current Ehlers-Danlos syndrome type X has been
described in only one family.
The Ehlers-Danlos syndrome type XI termed "Familial Joint Hypermobility syndrome"was
previously removed from the Ehlers-Danlos syndrome classification.
Its relationship to the EDS is not yet defined.
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